Key result
The homozygous POPDC1 S201F mutation causes a rare autosomal recessive limb-girdle muscular dystrophy and cardiac arrhythmia by reducing cAMP affinity by 50% and impairing protein membrane trafficking.
The POPDC1(S201F) mutation is identified as a novel genetic cause of autosomal recessive cardiac arrhythmia and limb-girdle muscular dystrophy.
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First human POPDC1 variant linked to cardiac/muscular disease; extends animal data but leaves clinical role open pending validation.
Schindler et al. (2015) studied Limb-girdle muscular dystrophy and cardiac arrhythmia (n=108). POPDC1 S201F mutation vs. Wild-type POPDC1 was evaluated on cAMP affinity and membrane trafficking. The homozygous POPDC1 S201F mutation causes a rare autosomal recessive limb-girdle muscular dystrophy and cardiac arrhythmia by reducing cAMP affinity by 50% and impairing protein membrane trafficking.
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